Women in science advancing individualized care at SickKids

Staff Physician in the Division of Respiratory Medicine, Senior Scientist in the Translational Medicine program, Director of the CHILD Cohort study, Associate Chief of Clinical Research & Co-Lead for Precision Child Health

What does your workday look like? 
My scientific work is focused on developing and sustaining deeply phenotyped cohorts as well as the many social, biological and environmental factors that influence the development of asthma. In this work I lead the CHILD cohort study, a national longitudinal general population birth cohort study that followed nearly 3,500 infants and their families from birth to present day (age 12 years).  

As a Clinician, I use what I have learned from my research to improve patient care. This includes developing better risk assessments to help predict which preschool asthmatics will have persistent asthma so we can deliver better targeted therapies to help them live a healthy life away from emergency rooms and hospitals. 

Why did you choose this line of work? 
I chose to study cohorts because it is a unique discovery pipeline that is incredibly impactful to patients, scientists and the public. Through the CHILD cohort study, we discovered novel types of asthma, the role of air pollution in developing allergies in infants and the critical importance of the gut microbiome in asthma. Recently, we discovered that most preschool asthma is allergic.  

What does Precision Child Health mean for your work? 
PCH is a concept that allows me to harness the diversity in my clinical cohorts. With it, I can better understand the different types of asthma, why some children respond to therapy, and help predict which children will respond to particular therapies.  

Using learnings from the CHILD study, I educate parents on risks of exposures and detail what types of asthma impact potential responses to therapies. Novel discoveries my research can lead to potential new therapies such as microbiome-based therapies that are on the horizon for asthma and other conditions. I hope in the future that these new therapies might prevent illness before it happens and keep kids healthy. 

Staff Physician in the Division of Rheumatology, Scientist in the Genetics & Genome Biology program and Canada Research Chair in Genetics of Rare Systemic Inflammatory Diseases 

What does your workday look like? 
Each day is different! One day I will care for patients in the hospital or meet with students about their research projects, and the next day I will be on calls with colleagues and collaborators around the world, working on papers and care guidelines together. The variety of activities, relationships and places is what continues to make my work exciting. 

Why did you choose this line of work? 
Growing up, I witnessed the immense fulfillment my parents got from helping others through their work. They are both role models who first helped me see how health care, education and research are deeply connected.  

As a clinician scientist, I help people directly through patient care and teaching trainees, while my research has the potential to advance scientific knowledge, helping children at SickKids and beyond. 

What does Precision Child Health mean for you and your work? 
PCH takes care to the next level by considering each individual patient’s unique biology and each family’s specific circumstances. In my own work, achieving this goal requires continued partnership with patients, families, members of the health-care team and scientists with a range of expertise. Collaboration helps us address an individual patients’ needs and work toward solutions that are feasible and provide the greatest benefits. 

My research focuses on understanding the genetics of rare systemic inflammatory conditions like lupus – a condition known to have “a thousand faces” because the signs and symptoms are very different from person to person. Like so many conditions, lupus is likely a consequence of the environment interacting with genetics. The goal of my lab group is to identify genes contributing to different signs and symptoms of lupus. Knowing this biology can help us select the most effective therapies and anticipate complications to improve care and the quality of people’s lives. 

Graduate student in Dr. Jason Maynes’ lab  

What does your workday look like? 
My primary focus is exploring innovative metabolic therapies for heart conditions and leveraging the regenerative potential inherent in paediatric hearts. My workday is intricately shaped by the stage of the experiment I find myself in.  

Each day is a dynamic blend of tasks, reflecting the multifaceted nature of translational research. 

Why did you choose this line of work? 
From an early stage, I have been driven by a desire to make a tangible difference in people’s lives. Translational research, for me, represents the intersection of passion and purpose. The prospect of being at the forefront of medical discovery, where laboratory findings directly translate into real-world applications is incredibly compelling. It’s not just about the science, but the potential it holds to transform health care and improve the lives of individuals facing heart failure.  

What does Precision Child Health mean for you and your work?  
Despite the current treatments, heart conditions remain one of the leading causes of death worldwide. In my own research, I focus on metabolic dysregulation in the heart as a potential early target for therapy. Metabolic changes happen before other significant changes in the heart's structure and function and so can serve as a crucial element of early detection and intervention. An emphasis on early identification aligns with the core principles of PCH by emphasizing timely and personalized approaches to paediatric health care that can meet the distinct needs of individual children. 

Our goal is to pioneer metabolic therapies with the aim of enhancing both life expectancy and quality of life. Through these efforts, we aspire to alleviate the burden of the condition not only on individuals but also on health-care systems. 

Bioinformatician in Dr. Gregory Costain’ lab  

What does a day in your work look like? 
As a bioinformatician, my primary job involves blending computer science and statistics to solve complex genetics-based challenges and analyze large datasets to answer a variety of research questions in the lab. 

What really gets me excited about bioinformatics is the variety the work brings. I'm like a jack-of-all-trades – building databases one day, figuring out how gene-variants interact the next and then optimizing code to annotate whole genomes. Bioinformatics keeps me on my toes, and the lack of a typical “day in the job” is exactly why I love it! 

Why did you choose this line of work? 
Firsthand experience with my family fueled my determination to pursue work in the field of genetics. I empathize with families seeking answers and treatments to the rare conditions their children are grappling with.  

Personally, I find it is very rewarding to work at a problem, particularly when it involves providing a line of evidence that could reshape the interpretation of a genetic variant and, ultimately, offer a family a crucial genetic diagnosis.  

What does Precision Child Health mean for you and your work? 
As a bioinformatician working with big datasets and complex tools, I often witness the tendency to make broad generalizations to identify patterns. PCH, as I interpret it, represents the departure from sweeping generalizations and supports the idea of tailoring health-care resources to address individual cases, each with its own intricacies. In one of my current projects, I am helping to advance precision therapies for rare genetic conditions. Long-term, my work will aid in forming a web application tool that can help physicians assess if diagnostic variants are eligible for certain types of genetic therapies. Bridging the gap between receiving a genetic diagnosis and implementing targeted treatments for rare conditions specific to individual patients is a crucial next step in patient care. 

Program Manager for Precision Child Health Partnerships 

What does your workday look like? 
I advance the strategic directions of two key partnerships: the Precision Child Health Partnership (PCHP) between SickKids and CHU Sainte-Justine, and the International Precision Child Health Partnership (IPCHiP) between four paediatric hospitals across three continents. 

I work closely with the leadership of both partnerships to provide support for day-to-day activities and facilitate cross-functional collaboration across partnering sites and external stakeholders. Every day is different!  

Why did you choose this line of work? 
Every day I work with and learn from world-leading researchers, health-care providers and other global experts to improve precision medicine outcomes for children. I love the community-building approach my role requires and the diversity of tasks and projects I get to manage.  

I’ve always been fascinated by genomics and the role it can have in medicine, so I’m fortunate to have a role that allows me to see first-hand some of the amazing technical advances in genomics we can leverage to support care. 

What does Precision Child Health mean for your work? 
My work follows the philosophy that we can go farther and faster together. To improve our understanding of individual health and illness, we need to integrate and analyze a lot of data – often more data than we have access to locally. By joining forces with other institutions, we can pool our medical and scientific expertise to build larger databases and cohorts with an increased scope for discovery. Researchers can use this combined pool of knowledge to ask novel questions and identify previously unknown patterns in gene-variant relationships. 

I believe the effort to collaborate and share knowledge and experiences will have one of the largest impacts on transforming individualized patient care. With our partners, we can jointly address challenges in the logistics of practice change and develop evidence for the sustainable implementation of diagnostic and therapeutic interventions in clinical care.